Variant report

Variant	rs7930519
Chromosome Location	chr11:93391082-93391083
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93370422..93373225-chr11:93388885..93391216,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10047479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10047481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10047484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1011008	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10128669	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10128725	0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10128726	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501805	0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs10741470	0.92[ASN][1000 genomes]
rs10741471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10765626	0.85[ASN][1000 genomes]
rs10765628	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10831085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11020438	1.00[EUR][1000 genomes]
rs11020448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11020467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11020468	1.00[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11020469	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11020477	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs11020493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11822965	1.00[EUR][1000 genomes]
rs11828991	1.00[EUR][1000 genomes]
rs12271543	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274112	0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277621	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12278092	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279657	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283126	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284176	0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291408	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293939	0.86[CHB][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377541	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919124	0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1944100	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1944101	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1944105	0.88[ASN][1000 genomes]
rs1954994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2155245	0.82[ASN][1000 genomes]
rs2155246	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs2155248	0.82[ASN][1000 genomes]
rs2186686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2276311	0.92[CHD][hapmap]
rs2288505	1.00[CHB][hapmap]
rs2298706	1.00[CHB][hapmap]
rs2298707	1.00[CHB][hapmap]
rs2509840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3737461	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs3802770	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs3802771	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs3802773	1.00[CHB][hapmap]
rs3802774	1.00[CHB][hapmap]
rs3802775	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs3819173	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs4303196	0.82[ASN][1000 genomes]
rs4753097	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs4753099	0.92[ASN][1000 genomes]
rs4753101	0.83[ASN][1000 genomes]
rs4753488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56705833	1.00[EUR][1000 genomes]
rs58111338	1.00[EUR][1000 genomes]
rs58454195	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs60224981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60410024	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904920	1.00[EUR][1000 genomes]
rs61904941	1.00[EUR][1000 genomes]
rs61904958	1.00[EUR][1000 genomes]
rs61918530	1.00[EUR][1000 genomes]
rs61918547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918549	1.00[EUR][1000 genomes]
rs61918550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918551	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918553	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918554	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61918555	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs61918557	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61918558	0.81[AMR][1000 genomes]
rs61921277	1.00[EUR][1000 genomes]
rs623510	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs630648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs631116	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs643924	0.82[ASN][1000 genomes]
rs648162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs674150	1.00[EUR][1000 genomes]
rs7109215	1.00[EUR][1000 genomes]
rs7111581	1.00[EUR][1000 genomes]
rs7113200	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128116	1.00[EUR][1000 genomes]
rs7130267	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7937523	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7941230	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7952443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7930519	CCDC67	cis	lymphoblastoid	seeQTL
rs7930519	C11orf75	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93389000-93393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:93389200-93393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:93389200-93394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:93389400-93394000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:93389400-93394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:93389400-93394200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:93389600-93394200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:93389600-93394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:93389600-93394200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:93389600-93394200	Weak transcription	Fetal Thymus	thymus
11	chr11:93389600-93394200	Weak transcription	Thymus	Thymus
12	chr11:93389600-93394200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:93389800-93394000	Weak transcription	Primary T cells from cord blood	blood
14	chr11:93390200-93393800	Weak transcription	Dnd41	blood

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